ArticleNeuron2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Article in Neuron, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 735 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
735 citing papers in PubMed, 5 syntheses or guidelines pooled it, 1,287 citations in OpenAlex.
- The impact of maternal vitamin D levels during pregnancy and risk of autism spectrum disorder and attention deficit hyperactivity disorder diagnosis and symptoms in offspring: a systematic review and dose-response meta-analysis.European child & adolescent psychiatry · 2026Pooled it
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- Autism spectrum disorder and schizophrenia: An updated conceptual review.Autism research : official journal of the International Society for Autism Research · 2022Pooled it
- Comparing the Gut Microbiome in Autism and Preclinical Models: A Systematic Review.Frontiers in cellular and infection microbiology · 2022Pooled it
- Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.The Yale journal of biology and medicine · 2021Pooled it
- Excitation/inhibition balance subtypes in autism and their genetic, neural, and clinical profiles.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.International journal of molecular sciences · 2026Article
- Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.Pediatric research · 2026Article
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- High Rate of Mutation and Efficient Removal by Selection of Structural Variants From Natural Populations of Caenorhabditis Elegans.Genome biology and evolution · 2026Article
- Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder.Science advances · 2026Article
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- Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
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- Number of Alpha Peaks in the Electroencephalogram Is Associated With Clinical Phenotype and Copy Number Variants in Youths With Autism.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2026Article
- A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort.Nature biomedical engineering · 2026Article
- Using the linear references from the pangenome to discover missing autism variants.Nature communications · 2026Article
- Uncovering the molecular logic of cortical wiring between neuronal subtypes across development through ligand-receptor inference.Nature communications · 2026Article
- Machine learning-based prediction of human structural variation and characterization of associated sequence determinants.bioRxiv : the preprint server for biology · 2026Article
675 more citing papers are in PubMed but not listed here.
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67 authors at 20 institutions in 2 countries.
Funding
Abstract
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6-12.0, p = 2.4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.